Quiz time!!

1. Why do you think bone marrow transplant was used to try to cure/prevent Niemann- pick disease?

2. What are diseases involving the cerebral cortex and subcortical structures responsible for?

3. How is type C Niemann- pick disease be diagnosed?

4. Mutations in which gene cause Niemann- pick disease types A and B?

5.What does dysphagia mean?

Links/ sources

http://parseghian.org/

http://www.videosurf.com/videos/Niemann%E2%80%93Pick+disease

Wikipedia. Google. Yahoo images.

Treatment/ Cure& Prevention

As of today, there's no specific treatment for Niemann- Pick Disease. Bone marrow transplants were attempted on several patients with type B but there was little success.Individuals with type C and D are placed on low-cholesterol diets. Future prospects include enzyme replacement and gene therapy

Diagnosis

Types A and B can be diagnosed by measuring the ASM activity in white blood cells. Low levels would point to Niemann-Pick disease. Type C can be diagnosed by examining a skin sample for cholesterol storage.

Causes

Mutations in the Sphingomyelin phosphodiesterase 1(SMPD1) gene cause Niemann- Pick disease types A and B. Mutations in the Niemann- Pick disease type C1 and C2 cause Niemann- Pick disease type C. NPC1 and NPC2 are proteins in the human body. This disease is inherited through an autosomal recessive pattern which means both copies. Both parents may have the disease but are not affected which mean that they are carriers. If both parents are carriers there is a 25% chance that the child may be affected.

Symptoms

The symptoms of Niemann- Pick Disease are all related to whichever organ they occur. Enlargement of the liver and spleen may cause reduced appetite, abdominal distension and pain as well as thrombocytopenia(thrombopenia for short) secondary to splenomegaly.

Sphingomyelin accumulation in the central nervous system (including the cerebellum) results in ataxia, slurring of speech (dysarthria) and discoordinated swallowing (dysphagia). Basal ganglia dysfunction causes abnormal posturing of the limbs, trunk and face (dystonia) and upper brainstem disease results in impaired voluntary rapid eye movements (supranuclear gaze palsy). More widespread disease involving the cerebral cortex and subcortical structures is responsible for gradual loss of intellectual abilities causing dementia and seizures

Sleep related disorders are also seen, including gelastic cataplexy (sudden loss of muscle tone associated with laughter), and sleep inversion (sleepiness during the day and wakefulness at night).

What is Niemann- Pick Disease

Niemann- Pick Disease refers to a group of fatal inherited metabolic disorders that are included in larger families of Lysosomal storage diseases.